title: The epilepsy phenome/genome project.
abstract: BACKGROUND
  Epilepsy is a common neurological disorder that affects approximately 50 million people worldwide. Both risk of epilepsy and response to treatment partly depend on genetic factors, and gene identification is a promising approach to target new prediction, treatment, and prevention strategies. However, despite significant progress in the identification of genes causing epilepsy in families with a Mendelian inheritance pattern, there is relatively little known about the genetic factors responsible for common forms of epilepsy and so-called epileptic encephalopathies. Study design The Epilepsy Phenome/Genome Project (EPGP) is a multi-institutional, retrospective phenotype-genotype study designed to gather and analyze detailed phenotypic information and DNA samples on 5250 participants, including probands with specific forms of epilepsy and, in a subset, parents of probands who do not have epilepsy.
  
  
  RESULTS
  EPGP is being executed in four phases: study initiation, pilot, study expansion/establishment, and close-out. This article discusses a number of key challenges and solutions encountered during the first three phases of the project, including those related to (1) study initiation and management, (2) recruitment and phenotyping, and (3) data validation. The study has now enrolled 4223 participants.
  
  
  CONCLUSIONS
  EPGP has demonstrated the value of organizing a large network into cores with specific roles, managed by a strong Administrative Core that utilizes frequent communication and a collaborative model with tools such as study timelines and performance-payment models. The study also highlights the critical importance of an effective informatics system, highly structured recruitment methods, and expert data review.
authors.forename: Bassel
authors.initials: B
authors.lastname: Abou-Khalil
authors.forename: Brian
authors.initials: B
authors.lastname: Alldredge
authors.forename: Jocelyn
authors.initials: J
authors.lastname: Bautista
authors.forename: Sam
authors.initials: S
authors.lastname: Berkovic
authors.forename: Judith
authors.initials: J
authors.lastname: Bluvstein
authors.forename: Alex
authors.initials: A
authors.lastname: Boro
authors.forename: Gregory
authors.initials: G
authors.lastname: Cascino
authors.forename: Damian
authors.initials: D
authors.lastname: Consalvo
authors.forename: Sabrina
authors.initials: S
authors.lastname: Cristofaro
authors.forename: Patricia
authors.initials: P
authors.lastname: Crumrine
authors.forename: Orrin
authors.initials: O
authors.lastname: Devinsky
authors.forename: Dennis
authors.initials: D
authors.lastname: Dlugos
authors.forename: Michael
authors.initials: M
authors.lastname: Epstein
authors.forename: Robyn
authors.initials: R
authors.lastname: Fahlstrom
authors.forename: Miguel
authors.initials: M
authors.lastname: Fiol
authors.forename: Nathan
authors.initials: N
authors.lastname: Fountain
authors.forename: Kristen
authors.initials: K
authors.lastname: Fox
authors.forename: Jacqueline
authors.initials: J
authors.lastname: French
authors.forename: Catharine
authors.initials: C
authors.lastname: Freyer Karn
authors.forename: Daniel
authors.initials: D
authors.lastname: Friedman
authors.forename: Eric
authors.initials: E
authors.lastname: Geller
authors.forename: Tracy
authors.initials: T
authors.lastname: Glauser
authors.forename: Simon
authors.initials: S
authors.lastname: Glynn
authors.forename: Kevin
authors.initials: K
authors.lastname: Haas
authors.forename: Sheryl
authors.initials: S
authors.lastname: Haut
authors.forename: Jean
authors.initials: J
authors.lastname: Hayward
authors.forename: Sandra
authors.initials: S
authors.lastname: Helmers
authors.forename: Sucheta
authors.initials: S
authors.lastname: Joshi
authors.forename: Andres
authors.initials: A
authors.lastname: Kanner
authors.forename: Heidi
authors.initials: H
authors.lastname: Kirsch
authors.forename: Robert
authors.initials: R
authors.lastname: Knowlton
authors.forename: Eric
authors.initials: E
authors.lastname: Kossoff
authors.forename: Rachel
authors.initials: R
authors.lastname: Kuperman
authors.forename: Ruben
authors.initials: R
authors.lastname: Kuzniecky
authors.forename: Daniel
authors.initials: D
authors.lastname: Lowenstein
authors.forename: Shannon
authors.initials: S
authors.lastname: McGuire
authors.forename: Paul
authors.initials: P
authors.lastname: Motika
authors.forename: Gerard
authors.initials: G
authors.lastname: Nesbitt
authors.forename: Edward
authors.initials: E
authors.lastname: Novotny
authors.forename: Ruth
authors.initials: R
authors.lastname: Ottman
authors.forename: Juliann
authors.initials: J
authors.lastname: Paolicchi
authors.forename: Jack
authors.initials: J
authors.lastname: Parent
authors.forename: Kristen
authors.initials: K
authors.lastname: Park
authors.forename: Annapurna
authors.initials: A
authors.lastname: Poduri
authors.forename: Neil
authors.initials: N
authors.lastname: Risch
authors.forename: Lynette
authors.initials: L
authors.lastname: Sadleir
authors.forename: Ingrid
authors.initials: I
authors.lastname: Scheffer
authors.forename: Renee
authors.initials: R
authors.lastname: Shellhaas
authors.forename: Elliott
authors.initials: E
authors.lastname: Sherr
authors.forename: Jerry J
authors.initials: JJ
authors.lastname: Shih
authors.forename: Shlomo
authors.initials: S
authors.lastname: Shinnar
authors.forename: Rani
authors.initials: R
authors.lastname: Singh
authors.forename: Joseph
authors.initials: J
authors.lastname: Sirven
authors.forename: Michael
authors.initials: M
authors.lastname: Smith
authors.forename: Joe
authors.initials: J
authors.lastname: Sullivan
authors.forename: Liu Lin
authors.initials: LL
authors.lastname: Thio
authors.forename: Anu
authors.initials: A
authors.lastname: Venkat
authors.forename: Eileen
authors.initials: E
authors.lastname: Vining
authors.forename: Gretchen
authors.initials: G
authors.lastname: von Allmen
authors.forename: Judith
authors.initials: J
authors.lastname: Weisenberg
authors.forename: Peter
authors.initials: P
authors.lastname: Widdess-Walsh
authors.forename: Melodie
authors.initials: M
authors.lastname: Winawer
mesh_terms: D004827:Epilepsy / Q000235:genetics*; D036281:Genetic Research; D005838:Genotype; D006801:Humans; D019451:Information Management; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D012107:Research Design; D012189:Retrospective Studies